Angeborene Innenohrschwerhörigkeit durch Mutationen im Connexin-26-Gen

Hearing loss is a frequent disease with an estimated incidence of 1:1000 in children. Hereditary hearing loss is characterised by enormous genetic heterogeneity, which makes diagnosis difficult. Approximately 50% of the Caucasian patients with autosomal recessive inherited hearing loss carry mutations in the connexin- 26 gene on chromosome 13. Standard screening procedures such as SSCP (single strand conformation polymorphism) analysis, DHPLC (denaturing high performance liquid chromatography) and subsequent sequencing are used to investigate this gene. A genetic test is thus available which can be offered to probands in genetic counselling. We investigated 11 patients with hearing loss and found sequence aberrations in 7 patients, which is causative for the hearing loss in at least 5 patients. The first application of DHPLC in Switzerland is also documented